Registry of respiratory monogenic diseases in Chinese children
Official title: Beijing Children's Hospital
Run by Beijing Children's Hospital · NCT03528525 · Data updated 2026-11-12
This study is trying to gather information from children with rare lung diseases to help understand their symptoms and improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Month to 18 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Beijing Children's Hospital Academic / other |
| Locations | 1 site (Beijing, Beijing Municipality) |
| Status | Recruiting |
| Started | January 1, 2017 |
| Main results expected | January 1, 2018 |
| Study ends | December 30, 2030 |
| Registry record updated | May 18, 2018 |
| Trial ID | NCT03528525 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are children aged 0-18 years with symptoms consistent with respiratory monogenic diseases.
✕Probably not a fit
Patients who cannot provide complete medical records or are unwilling to participate in the study will not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This multicenter, prospective cohort study focuses on children diagnosed with respiratory monogenic diseases. It aims to collect and follow clinical information, including symptoms, lung function, chest imaging, and quality of life indicators over a period of five years. Patients will undergo standard diagnostic processes and their clinical data will be monitored to better understand these diseases. The study seeks to establish a comprehensive registry that can aid in future research and treatment approaches.
Why it matters
Potential benefit: If successful, this study could enhance understanding and management of respiratory monogenic diseases in children, leading to improved patient outcomes.
How similar studies have gone: While similar observational studies have been conducted, this specific focus on respiratory monogenic diseases in children is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Age: 0-18 years, male and female. 2. Any organ system symptoms consistent with the diagnostic points of respiratory monogenic diseases. 3. Agree to retain specimens related to disease research and agree to store the specimens in the sample bank. 4. willing and able to cooperate with long-term follow-up. 5. The guardian of the child has a full understanding of the purpose of the study, a basic understanding of the clinical research program, and voluntarily allows the child to participate in the study and sign an informed consent form. Exclusion Criteria: 1. It is unable to provide complete medical records or the current condition can not accept the diagnosis process 2. She or he cannot agree to participate in the study.
Where it's running
-
Beijing Children's hospital
Beijing, Beijing Municipality, China Recruiting
Study contacts
- Study coordinator: Kunling Shen, MD,PhD
- Email: kunlingshen1717@163.com
- Phone: 861059616308
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Non-Invasive Prenatal Exclusion Diagnosis for Severe Monogenic Disorders
This study checks if a blood test using fetal DNA from mom can help identify or exclude certain severe monogenic disorders without invasive procedures, for couples at risk.
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Chinese monogenic diabetes registry
This project will test whether an online and mobile registry can find and genetically confirm people in China with monogenic forms of diabetes, including neonatal diabetes and MODY.
-
Dorzagliatin for glucokinase (GCK-MODY) diabetes
This trial will test whether dorzagliatin, a drug that activates glucokinase, can lower blood sugar in adults with GCK-MODY caused by an inactivating GCK mutation.
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Personalized management for monogenic diabetes using genetic screening
This study is testing a new online platform that helps people with monogenic diabetes by using genetic screening to create personalized treatment plans for better blood sugar control.
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Understanding beta cell disorders through genetic insights
This study is trying to learn more about beta cell problems, like diabetes, by looking at the genes of people with and without these issues to see if it can help find new treatments.
-
Identifying Monogenic Diabetes Misdiagnosed as Type 1
This study is trying to find out how often young people are wrongly diagnosed with type 1 diabetes when they actually have a rare form called monogenic diabetes, by testing their blood and looking for specific genetic changes.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.